Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report.
Bmc Medical Genetics
Astrea, Guja G; Petrucci, Antonio A; Cassandrini, Denise D; Savarese, Marco M; Trovato, Rosanna R; Lispi, Ludovico L; Rubegni, Anna A; Giacanelli, Manlio M; Massa, Roberto R; Nigro, Vincenzo V; Santorelli, Filippo M FM